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Variant : CV73979 (GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1) Homo sapiens

Symbol: CV73979
Name: GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1
Condition: Hypertonia [RCV000053223]|See cases [RCV000053223]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CSPG4   FBXO22   IMP3   MIR4313   NRG4   ODF3L1   SNUPN   SNX33   UBE2Q2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_75596961)_(76049787_?)del
NC_000015.9:g.(?_75889302)_(76342128_?)del
NC_000015.8:g.(?_73676357)_(74129183_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381575,596,961 - 76,049,787CLINVAR
GRCh371575,889,302 - 76,342,128CLINVAR
Build 361573,676,357 - 74,129,183CLINVAR
Cytogenetic Map1515q24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620160
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.